Fragile X is an X-linked recessive disease that is caused by a gene change in the FMR1 gene. This change is caused by an unusual number of repetitions of the DNA code CGG. The X chromosome is attached by a thin thread of DNA. (see right side of picture below)
- Learning disabilities/speech impediments
- Mental/physical retardation
- Attention deficit/hyperness
- Elongated face, large ears (picture to the right)
- Large testicles (only in men)
- Autistic behaviors
- Heart problems
- Hyper-extensible joints, especially fingers
- Epilepsy (25% on infected people)http://commons.wikimedia.org/wiki/Image:Fragile_x_syndrom.png</span
Diagnosis
There are two different tests that can diagnose Fragile X. The old method, the chromosome test, and the newer more efficient method, the DNA test (aka the FMR-1 gene test). The chromosome test is not as common anymore because it is unreliable. The DNA test is 99+% accurate. It is conducted by taking a blood sample, then sending it to a lab. Results are available in 2-4 weeks.
Prognosis
Doctors' prognosises for patients with Fragile X vary greatly. Those with less severe cases will live fairly normal lives, and will most likely not need extended assistance from the doctor. Life expectancy for most cases is the same as a healthy individual. Patients who are diagnosed with very severe cases will need supervision for their entire life. Most of those individuals will live to the age of 60. For men diagnosed with a mild case when they are children, the symptoms begin to become more severe as they age.
Treatment
At the present time, there is not a treatment to cure someone from Fragile X. This is because not enough is known about the disease and how it is inherited. The only treatment patients receive will help to lessen the symptoms. These include, special education, physical therapy, behavioral counseling, and medication to prevent further complications. Scientists are researching the disease, and hope to develop a single cure sometime in the future.
Statistics
The Center for Disease Control conducted a survey, and the results show that 1 in 4000 males and 1 in 6000 females, of all races and ethnic groups, are infected with Fragile X. Also, about 1 in 259 women carry fragile X, meaning they could pass it on to their children. About 1 in 800 men also carry the disease, meaning if they have a daughter she will be infected.
Did You Know That...
Fragile X is the most common cause of inherited intellectual disabilty.
Fragile X causes over 200 repetitions of a certain part of the FMR1 gene, as opposed to around 55 of them.
Comments
I know the page is in its early stages, but don't forget to cite your sources!!! It's looking good though and I can't wait to see how it will turn out. CV-2-CB
I think it was a good idea to put the pedigree on the page; Its something extra but it also gives people something different to look at. AM and VR
We like the colors in the title they make it seem more enjoyable. Also we did not know that it is the most common inherited intellectual disease. TF & BS.
We think it is sad that 1 in 259 women are carriers. Your page is great, very well organized. - Marfan's Syndrome
We think that it's quite depressing that this disease is the most common cause of inherited intellectual disability. We do rather enjoy your pictures. - Cri-du-Chat (RS and UP)
This is the sweetest page ever made and you should get a 100%. The colors in the titles draw me right into the action. EN
Dear pp and partner. Your page is very informational. We learned a lot about fragile x because your page is very organized and easy to read. We thoroughly enjoyed your pictures. Peace out duuuuuudes-cretinism Bibliography
Butt, Jennifer. "Prognosis of Fragile X Syndrome." X-Linked Genetic Diseases. James Madison University. 6 Apr. 2008 <www.ikm.jmu.edu>.
Clapp, Katie, and Michael Tranfaglia, eds. "About Fragile X." Fraxa.Org. 9 Dec. 2007. Fragile X Research Foundation. 6 Apr. 2008
<www.fraxa.org/aboutfx_cause>.
"Fragile X Syndrome." Health Encyclopedia - Diseases and Conditions. Health Scout Network. 6 Apr. 2008 <www.healthscout.com/>.
"Fragile X Syndrome." Medicine Net. 27 Mar. 2008. WebMD. 6 Apr. 2008 <www.medicinenet.com/fragile_x_syndrome>. "Fragile X Syndrome." Online Photograph. Encyclopædia Britannica Online. 6 Apr. 2008 <www.britannica.com/eb/art-1697/The-fragile-X-chromosome>.
Fragile X
http://content.answers.com/main/content/wp/en/a/a3/XlinkRecessive.jpg</span
What is Fragile X???
Fragile X is an X-linked recessive disease that is caused by a gene change in the FMR1 gene. This change is caused by an unusual number of repetitions of the DNA code CGG. The X chromosome is attached by a thin thread of DNA. (see right side of picture below)Symptoms/Effects
- Learning disabilities/speech impediments- Mental/physical retardation
- Attention deficit/hyperness
- Elongated face, large ears (picture to the right)
- Large testicles (only in men)
- Autistic behaviors
- Heart problems
- Hyper-extensible joints, especially fingers
- Epilepsy (25% on infected people)http://commons.wikimedia.org/wiki/Image:Fragile_x_syndrom.png</span
Diagnosis
There are two different tests that can diagnose Fragile X. The old method, the chromosome test, and the newer more efficient method, the DNA test (aka the FMR-1 gene test). The chromosome test is not as common anymore because it is unreliable. The DNA test is 99+% accurate. It is conducted by taking a blood sample, then sending it to a lab. Results are available in 2-4 weeks.
Prognosis
Doctors' prognosises for patients with Fragile X vary greatly. Those with less severe cases will live fairly normal lives, and will most likely not need extended assistance from the doctor. Life expectancy for most cases is the same as a healthy individual. Patients who are diagnosed with very severe cases will need supervision for their entire life. Most of those individuals will live to the age of 60. For men diagnosed with a mild case when they are children, the symptoms begin to become more severe as they age.
Treatment
At the present time, there is not a treatment to cure someone from Fragile X. This is because not enough is known about the disease and how it is inherited. The only treatment patients receive will help to lessen the symptoms. These include, special education, physical therapy, behavioral counseling, and medication to prevent further complications. Scientists are researching the disease, and hope to develop a single cure sometime in the future.
Statistics
The Center for Disease Control conducted a survey, and the results show that 1 in 4000 males and 1 in 6000 females, of all races and ethnic groups, are infected with Fragile X. Also, about 1 in 259 women carry fragile X, meaning they could pass it on to their children. About 1 in 800 men also carry the disease, meaning if they have a daughter she will be infected.
Did You Know That...
Fragile X is the most common cause of inherited intellectual disabilty.
Fragile X causes over 200 repetitions of a certain part of the FMR1 gene, as opposed to around 55 of them.
Comments
I know the page is in its early stages, but don't forget to cite your sources!!! It's looking good though and I can't wait to see how it will turn out. CV-2-CB
I think it was a good idea to put the pedigree on the page; Its something extra but it also gives people something different to look at. AM and VR
We like the colors in the title they make it seem more enjoyable. Also we did not know that it is the most common inherited intellectual disease. TF & BS.
We think it is sad that 1 in 259 women are carriers. Your page is great, very well organized. - Marfan's Syndrome
We think that it's quite depressing that this disease is the most common cause of inherited intellectual disability. We do rather enjoy your pictures. - Cri-du-Chat (RS and UP)
This is the sweetest page ever made and you should get a 100%. The colors in the titles draw me right into the action. EN
Dear pp and partner. Your page is very informational. We learned a lot about fragile x because your page is very organized and easy to read. We thoroughly enjoyed your pictures. Peace out duuuuuudes-cretinism
Bibliography
Butt, Jennifer. "Prognosis of Fragile X Syndrome." X-Linked Genetic Diseases. James Madison University. 6 Apr. 2008 <www.ikm.jmu.edu>.
Clapp, Katie, and Michael Tranfaglia, eds. "About Fragile X." Fraxa.Org. 9 Dec. 2007. Fragile X Research Foundation. 6 Apr. 2008
<www.fraxa.org/aboutfx_cause>.
"Fragile X Syndrome." Health Encyclopedia - Diseases and Conditions. Health Scout Network. 6 Apr. 2008 <www.healthscout.com/>.
"Fragile X Syndrome." Medicine Net. 27 Mar. 2008. WebMD. 6 Apr. 2008 <www.medicinenet.com/fragile_x_syndrome>.
"Fragile X Syndrome." Online Photograph. Encyclopædia Britannica Online. 6 Apr. 2008 <www.britannica.com/eb/art-1697/The-fragile-X-chromosome>.
"Man With Fragile X." Wikimedia Commons. 6 July 2006. Wikimedia. 6 Apr. 2008 <commons.wikimedia.org/wiki/Image:Fragile_x_syndrom.png>."Testing for Fragile X." 3 Feb. 2006. The National Fragile X Foundation. 5 Apr. 2008 <www.fragilex.org/html/testing.htm>. "Fragile X Pedigree." Fragile X Syndrome. 2008. Answers.com. 6 Apr. 2008 <http://content.answers.com/main/content/wp/en/a/a3/XlinkRecessive.jpg.>
"Fragile X Syndrome." Disability Online. 31 Mar. 2004. Victorian Government. 6 Apr. 2008. <http://www.disability.vic.gov.au/dsonline/dsarticles.nsf/pages/Fragile_X_syndrome?OpenDocument.>